Developing New Ways to Detect Respiratory Impairment Early in ALS

Conditions

• Amyotrophic Lateral Sclerosis (ALS)

Eligibility Criteria

Sex

ALL

Age

18 Years - N/A

Healthy Volunteers

Accepted

Study Details

The goal of this observational study is to develop new ways to detect early changes associated with amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The study will examine whether changes in breathing, magnetic resonance imaging (MRI) of the brainstem and spinal cord, and blood markers can identify early signs of ALS before major physical changes occur. The main questions the study aims to answer are: * Can changes in automatic breathing help identify early ALS-related changes? * Can breathing measures distinguish people with ALS from people without ALS? * Do people with genetic risk for ALS who show changes in breathing also have changes in the brainstem and spinal cord or higher levels of blood markers associated with nerve damage? Participants will complete breathing and muscle function tests, an MRI scan of the brainstem and spinal cord, and blood testing. The study will include people with ALS, people with genetic risk for ALS who do not yet have symptoms, and healthy adults for comparison.

Key Dates

First listed

Sep 28, 2026

Start date

Sep 30, 2026

Status verified

Sep 2026

Primary completion

Mar 31, 2028

Completion

Mar 31, 2028

Study Design

Enrollment

70 participants (estimated)

Arms

• Arm: Symptomatic Amyotrophic Lateral Sclerosis
  Participants with symptomatic amyotrophic lateral sclerosis (ALS), including familial or sporadic ALS, who have clinical evidence of disease. This group will undergo study assessments to characterize respiratory function and biomarkers associated with ALS.
• Arm: Asymptomatic/Presymptomatic ALS Gene Carriers
  Participants who carry a genetic variant associated with amyotrophic lateral sclerosis but do not have clinical symptoms or functional deficits associated with ALS. This group will be evaluated for early or subclinical changes in respiratory function and other biomarkers associated with ALS.
• Arm: Healthy Controls
  Neurologically healthy participants without clinically identifiable neurological deficits who will serve as a comparison group for the study assessments.

Primary Outcome Measure

Diagnostic Accuracy of the Automatic Breathing Impairment Risk Score (P0.1 + Chemosensitivity) for Detecting ALS-Related Respiratory Dysfunction [ Time Frame: During the single study visit ]

Central Contacts

• Jayakrishnan Nair, PhD, PT
  352-871-5888
  [email protected]
• Dana Johnson, DPT
  215-326-9153
  [email protected]

Locations (1)

Find similar trials in Philadelphia, PA

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